Literature DB >> 6808417

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy.

H Naito, S Oyanagi.   

Abstract

Entities:  

Mesh:

Year:  1982        PMID: 6808417     DOI: 10.1212/wnl.32.8.798

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  35 in total

1.  Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.

Authors:  H Takano; O Onodera; H Takahashi; S Igarashi; M Yamada; M Oyake; T Ikeuchi; R Koide; H Tanaka; K Iwabuchi; S Tsuji
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  A sporadic case of dentatorubral pallidoluysian atrophy (DRPLA) with CAG repeat expansion but no clinical abnormalities in the father.

Authors:  N Shimizu; T Yamami; M Nakayama; T Ikeuchi; R Koide; S Tsuji
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-07       Impact factor: 10.154

Review 3.  The role for alterations in neuronal activity in the pathogenesis of polyglutamine repeat disorders.

Authors:  Ravi Chopra; Vikram G Shakkottai
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

Review 4.  Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.

Authors:  Erin E Robertson; Deborah A Hall; Andrew R McAsey; Joan A O'Keefe
Journal:  Clin Neuropsychol       Date:  2016-08       Impact factor: 3.535

Review 5.  Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy.

Authors:  Yasuyo Suzuki; Ikuru Yazawa
Journal:  Int J Clin Exp Pathol       Date:  2011-04-25

Review 6.  The history of progressive myoclonus epilepsies.

Authors:  Pierre Genton; Pasquale Striano; Berge A Minassian
Journal:  Epileptic Disord       Date:  2016-09-01       Impact factor: 1.819

7.  Somatic mosaicism of the expanded CAG trinucleotide repeat in mRNAs for the responsible gene of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and spinal and bulbar muscular atrophy (SBMA).

Authors:  Y Ito; F Tanaka; M Yamamoto; M Doyu; M Nagamatsu; S Riku; T Mitsuma; G Sobue
Journal:  Neurochem Res       Date:  1998-01       Impact factor: 3.996

8.  Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.

Authors:  T Ikeuchi; S Igarashi; Y Takiyama; O Onodera; M Oyake; H Takano; R Koide; H Tanaka; S Tsuji
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

9.  Huntington disease without CAG expansion: phenocopies or errors in assignment?

Authors:  S E Andrew; Y P Goldberg; B Kremer; F Squitieri; J Theilmann; J Zeisler; H Telenius; S Adam; E Almquist; M Anvret
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

Review 10.  A pathogenetic classification of hereditary ataxias: is the time ripe?

Authors:  Giuseppe De Michele; Giovanni Coppola; Sergio Cocozza; Alessandro Filla
Journal:  J Neurol       Date:  2004-08       Impact factor: 4.849

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.